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Items: 1 to 20 of 36

1.

Rare Association of Mucolipidosis III alpha/beta with Dilated Cardiomyopathy.

Kwak MJ, Lee HW, Kim YM, Cho SY, Park HD, Jin DK.

Ann Clin Lab Sci. 2018 Nov;48(6):785-789.

PMID:
30610051
2.

Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.

Nampoothiri S, Elcioglu NH, Koca SS, Yesodharan D, Kk C, Krishnan V 5th, Bhat M, Mohandas Nair K, Radhakrishnan N, Kappanayil M, Sheth JJ, Alves S, Coutinho F, Friez MJ, Pauli RM, Unger S, Superti-Furga A, Leroy JG, Cathey SS.

Clin Dysmorphol. 2019 Jan;28(1):7-16. doi: 10.1097/MCD.0000000000000249.

PMID:
30507725
3.

Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing.

Khan MA, Hussain A, Sher G, Zubaida B, Naeem M.

Genet Test Mol Biomarkers. 2018 Sep;22(9):541-545. doi: 10.1089/gtmb.2018.0123.

PMID:
30235039
4.

GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report.

Ho CC, Tsung LL, Liu KT, Poon WT.

BMC Med Genet. 2018 Sep 12;19(1):162. doi: 10.1186/s12881-018-0679-5.

5.

Recycling of Golgi glycosyltransferases requires direct binding to coatomer.

Liu L, Doray B, Kornfeld S.

Proc Natl Acad Sci U S A. 2018 Sep 4;115(36):8984-8989. doi: 10.1073/pnas.1810291115. Epub 2018 Aug 20.

6.

Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.

Wang Y, Ye J, Qiu WJ, Han LS, Gao XL, Liang LL, Gu XF, Zhang HW.

Acta Pharmacol Sin. 2019 Feb;40(2):279-287. doi: 10.1038/s41401-018-0023-9. Epub 2018 Jun 5.

PMID:
29872134
7.

Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells.

Di Lorenzo G, Velho RV, Winter D, Thelen M, Ahmadi S, Schweizer M, De Pace R, Cornils K, Yorgan TA, Grüb S, Hermans-Borgmeyer I, Schinke T, Müller-Loennies S, Braulke T, Pohl S.

Mol Cell Proteomics. 2018 Aug;17(8):1612-1626. doi: 10.1074/mcp.RA118.000720. Epub 2018 May 17.

8.

Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients.

Tüysüz B, Kasapçopur Ö, Alkaya DU, Şahin S, Sözeri B, Yeşil G.

Gene. 2018 Feb 5;642:398-407. doi: 10.1016/j.gene.2017.11.052. Epub 2017 Nov 21.

PMID:
29170090
9.

Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease.

Zrhidri A, Amasdl S, Lyahyai J, Elouardi H, Chkirate B, Raymond L, Egéa G, Taoudi M, El Mouatassim S, Sefiani A.

Pediatr Rheumatol Online J. 2017 Sep 26;15(1):72. doi: 10.1186/s12969-017-0200-2.

10.

Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta.

Coutinho MF, Encarnação M, Laranjeira F, Lacerda L, Prata MJ, Alves S.

J Pediatr Endocrinol Metab. 2016 Oct 1;29(10):1225-1228. doi: 10.1515/jpem-2016-0173.

PMID:
27710913
11.

Manifestations of Mucolipidosis III in the hand: avascular necrosis of multiple carpal bones.

Kadar A, Elhassan B, Moran SL.

J Hand Surg Eur Vol. 2017 Jul;42(6):645-646. doi: 10.1177/1753193416667008. Epub 2016 Sep 8. No abstract available.

PMID:
27609217
12.

A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II α/β.

Hashemi-Gorji F, Ghafouri-Fard S, Salehpour S, Yassaee VR, Miryounesi M.

J Pediatr Endocrinol Metab. 2016 Aug 1;29(8):991-3. doi: 10.1515/jpem-2016-0032.

PMID:
27180337
13.

Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-Phosphotransferase.

van Meel E, Kornfeld S.

Hum Mutat. 2016 Jul;37(7):623-6. doi: 10.1002/humu.22993. Epub 2016 Apr 22.

14.

Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.

Velho RV, Ludwig NF, Alegra T, Sperb-Ludwig F, Guarany NR, Matte U, Schwartz IV.

J Hum Genet. 2016 Jun;61(6):555-60. doi: 10.1038/jhg.2016.13. Epub 2016 Mar 3.

PMID:
26935170
15.

A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses.

Langereis EJ, Wagemans T, Kulik W, Lefeber DJ, van Lenthe H, Oussoren E, van der Ploeg AT, Ruijter GJ, Wevers RA, Wijburg FA, van Vlies N.

PLoS One. 2015 Sep 25;10(9):e0138622. doi: 10.1371/journal.pone.0138622. eCollection 2015.

16.

Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.

Raza MH, Domingues CE, Webster R, Sainz E, Paris E, Rahn R, Gutierrez J, Chow HM, Mundorff J, Kang CS, Riaz N, Basra MA, Khan S, Riazuddin S, Moretti-Ferreira D, Braun A, Drayna D.

Eur J Hum Genet. 2016 Apr;24(4):529-34. doi: 10.1038/ejhg.2015.154. Epub 2015 Jul 1.

17.

Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation.

Barea JJ, van Meel E, Kornfeld S, Bird LM.

Am J Med Genet A. 2015 Nov;167A(11):2844-6. doi: 10.1002/ajmg.a.37213. Epub 2015 Jun 24. No abstract available.

18.

Cardiac MRI findings in mucolipidosis III.

Abualsuod A, Hacioglu Y, Vallurupalli S, Deshmukh A, Paydak H.

Acta Cardiol. 2014 Oct;69(5):564-5. No abstract available.

PMID:
25638845
19.

Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition.

Qian Y, van Meel E, Flanagan-Steet H, Yox A, Steet R, Kornfeld S.

J Biol Chem. 2015 Jan 30;290(5):3045-56. doi: 10.1074/jbc.M114.612507. Epub 2014 Dec 11.

20.

Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ.

van Meel E, Qian Y, Kornfeld SA.

Proc Natl Acad Sci U S A. 2014 Mar 4;111(9):3532-7. doi: 10.1073/pnas.1401417111. Epub 2014 Feb 18.

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